Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for <i>INSR</i> and <i>CHN2</i>

Abstract

We present a likely digenic cause of insulin resistance and growth deficiency resulting from the combined heterozygous disruption of INSR and CHN2, implicating CHN2 for the first time as a key element of proximal insulin signaling in vivo.